Rady Children's Institute for Genomic Medicine and Edico Genome Collaborate to Expand and Scale Ultra-Rapid, 26-Hour Whole-Genome Based Diagnoses of Critically Ill Newborns

Rady Children's Institute for Genomic Medicine began providing whole genome sequencing in July 2016 with clinical interpretation in a meaningful, timely and highly accurate manner to critically ill children. This rapid method allows the simultaneous evaluation of nearly all of the 4,500 known genetic diseases in a single test. Rapid diagnosis is essential in acute care situations, particularly in NICUs where medical decision-making must happen in minutes and hours, not weeks.

"Rapid diagnosis of critically ill newborns is no longer an academic exercise, it's a reality for critically ill newborns admitted to the NICU and PICU at Rady Children's Hospital . The information we receive from this rapid and comprehensive testing is already helping our medical teams make treatment decisions and impacting the lives of these babies and their families," said Stephen Kingsmore, M.D., D.Sc., president and chief executive officer of the Rady Children's Institute for Genomic Medicine. "Development of this ultra-rapid test could not have been possible without the dedicated efforts of our key partners, including Edico Genome. We look forward to working with Edico on evolving the platform and making this rapid testing capability available to additional NICUs around the globe."

Up to one-third of babies admitted to a neonatal intensive care unit in the United States have a genetic disease, and more than 20 percent of infant deaths are caused by genetic illnesses. Treatments are currently available for more than 500 genetic diseases; for many of these, initiation of therapy in newborns can help prevent disabilities and life-threatening illnesses. The cost of whole-genome sequencing has fallen to the point of feasibility for clinical testing of these and other conditions, and the DRAGEN bioinformatics chip is reducing time needed for analysis, facilitating the use of genomic medicine in acute medical care.

"Rapid diagnostics is essential to fundamentally changing our ability to inform clinical care," said Narayanan "Ray" Veeraraghavan, Ph.D., director of information technology, Rady Children's Institute for Genomic Medicine. "Deploying whole-genome based testing at the bedside becomes practical and actionable when results are consistently and expeditiously returned to the attending physician(s)."

In 2015, while at Children's Mercy Kansas City, Dr. Kingsmore and his team successfully diagnosed critically ill newborns in 26 hours, as published in the journal Genome Medicine, using time-shrinking technologies including in-house software, Edico Genome's DRAGEN Bio-IT Processor for data analysis and one of Illumina's high-throughput sequencing instruments.

"We could not be prouder that newborn babies are receiving rapid and potentially life-saving care based on the speed and accuracy of DRAGEN," said Pieter van Rooyen, Ph.D., chief executive officer of Edico Genome. "This ultra-rapid NICU testing is the first clinical application of the DRAGEN platform. It's not enough for one institute to implement this technology though – this testing needs to be scaled for easy use by NICUs around the world. We look forward to working with Dr. Kingsmore and his team to realize the vision of an all-in-one appliance where the ultra-rapid test can be performed onsite or in the cloud and can be expanded to include analysis of additional clinically relevant variants, such as structural and copy number variants."

DRAGEN accelerates secondary analysis of next-generation sequencing data, reducing the time required for analyzing a genome at 30x coverage from ­approximately 30 hours to nearly 22 minutes. DRAGEN uses a field-programmable gate array (FPGA) to implement genome pipeline algorithms, including BCL conversion, compression, mapping, alignment, sorting, duplicate marking and haplotype variant calling. The platform includes whole genome and exome, transcriptome, joint genotyping, methylation, and GATK pipelines, and allows users to develop custom algorithms as well as refine and improve existing pipelines. Updated versions are made available for customers through simple remote downloads.

Dr. Veeraraghavan will discuss the ultra-rapid NICU test in more detail at the 2016 American Society of Human Genetics (ASHG) annual meeting. To register for this discussion, visit Edico's website.  

About Rady Children's Institute for Genomic Medicine
Rady Children's Institute for Genomic Medicine was founded by Rady Children's Hospital – San Diego and brings together world-class scientists and clinicians into shared research infrastructure for accelerated translation of research discoveries into prevention, diagnosis, treatment and ultimately cures for childhood diseases. This integrated, process-driven approach to precision medicine includes genomics, transcriptomics, epigenomics, metabolomics and proteomics, and provides a comprehensive view of a child's health status and risk factors for disease.

About Rady Children's Hospital-San Diego
Rady Children's Hospital-San Diego is a 551-bed pediatric care facility providing the largest source of comprehensive pediatric medical services in San Diego, Southern Riverside and Imperial counties. Rady Children's is the only hospital in the San Diego area dedicated exclusively to pediatric healthcare and is the region's only designated pediatric trauma center. In June 2016, U.S. News & World Report ranked Rady Children's among the best children's hospitals in the nation in nine pediatric specialties the magazine surveyed. Rady Children's is a nonprofit organization that relies on donations to support its mission. For more information, visit www.rchsd.org and find us on Facebook, Twitter and Vimeo.

About Edico Genome
Edico Genome has created the world's first bioinformatics processor designed to analyze next-generation sequencing data, DRAGEN™. The use of next-generation sequencing is growing at an unprecedented pace, creating a need for a technology that can process this big data rapidly and accurately. Edico Genome's computing platform has been shown to speed whole genome data analysis from hours to minutes, while maintaining high accuracy and reducing costs, enabling clinicians and researchers to reveal answers more quickly. For more information, visit www.EdicoGenome.com or follow @EdicoGenome.

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SOURCE Edico Genome; Rady Children’s Institute for Genomic Medicine

Related Links

http://www.edicogenome.com